Výsledky vyhľadávania - "Methyltransferases genetics"

Noncoding RNA regulates the expression of Krm1 and Dkk2 to synergistically affect aortic valve lesions

Autori: Gaopeng Xian Rong Huang Minhui Xu a ďalší

Prispievatelia: Gaopeng Xian Rong Huang Minhui Xu a ďalší

Zdroj: Exp Mol Med
Experimental and Molecular Medicine, Vol 56, Iss 7, Pp 1560-1573 (2024)

Predmety: Male, 0301 basic medicine, 0303 health sciences, Calcinosis, Membrane Proteins, QD415-436, Aortic Valve Stenosis, Methyltransferases, RNA, Circular, 631/337/384/331, Intercellular Signaling Peptides and Proteins/metabolism [MeSH], 38/91, Intercellular Signaling Peptides and Proteins/genetics [MeSH], Calcinosis/metabolism [MeSH], Wnt Signaling Pathway [MeSH], Male [MeSH], 38/47, Membrane Proteins/metabolism [MeSH], Gene Expression Regulation [MeSH], MicroRNAs/genetics [MeSH], Disease Models, Animal [MeSH], Membrane Proteins/genetics [MeSH], RNA, Circular/metabolism [MeSH], Calcinosis/pathology [MeSH], 692/699/75/591, Aortic Valve/metabolism [MeSH], Humans [MeSH], MicroRNAs/metabolism [MeSH], Animals [MeSH], 64/60, Aortic Valve Stenosis/pathology [MeSH], Mice [MeSH], Aortic Valve Stenosis/metabolism [MeSH], Article, Aortic Valve/pathology [MeSH], Calcinosis/genetics [MeSH], RNA, Circular/genetics [MeSH], Methyltransferases/genetics [MeSH], Methyltransferases/metabolism [MeSH], Aortic Valve Stenosis/genetics [MeSH], article, 14/32, Biochemistry, 3. Good health, Mice, MicroRNAs, Disease Models, Animal, 03 medical and health sciences, Gene Expression Regulation, Aortic Valve, Medicine, Animals, Intercellular Signaling Peptides and Proteins, Humans, Wnt Signaling Pathway

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38945954
https://doaj.org/article/6cc80c93cad140b8bd082ddc45ec6559
https://resolver.sub.uni-goettingen.de/purl?gro-2/144912
https://repository.publisso.de/resource/frl:6508632

Mime-seq 2.0: a method to sequence microRNAs from specific mouse cell types: a method to sequence microRNAs from specific mouse cell types

Autori: Ariane Mandlbauer Qiong Sun Niko Popitsch a ďalší

Zdroj: EMBO J
EMBO Journal
bioRxiv

Predmety: Resource, 0301 basic medicine, B Cells, Mice, Transgenic, Methylation, Transgenic, Cell Line, Methyltransferases/genetics, Mice, 03 medical and health sciences, 106023 Molekularbiologie, Mammalian System, Argonaute Proteins/genetics, miRNA Profiling, Animals, Humans, B-Lymphocytes/metabolism, miRNA Methylation, B-Lymphocytes, 0303 health sciences, Rare Cell Types, Sequence Analysis, RNA, 106010 Developmental biology, Methyltransferases, 106023 Molecular biology, 106010 Entwicklungsbiologie, MicroRNAs/genetics, MicroRNAs, Argonaute Proteins, RNA/methods, Sequence Analysis

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38689024
https://ucrisportal.univie.ac.at/de/publications/00eeb479-a07d-4b62-92e7-519325647a12
https://doi.org/10.1101/2023.11.06.565867
https://ucrisportal.univie.ac.at/de/publications/97bd1236-d638-484e-998c-a0115c5c414f
https://doi.org/10.1038/s44318-024-00102-8
https://phaidra.univie.ac.at/o:2068424
https://doi.org/10.1038/s44318-024-00102-8
https://hdl.handle.net/11353/10.2068424

N1-methylation of adenosine (m1A) in ND5 mRNA leads to complex I dysfunction in Alzheimer’s disease

Autori: Marko Jörg Johanna E. Plehn Marco Kristen a ďalší

Prispievatelia: Marko Jörg Johanna E. Plehn Marco Kristen a ďalší

Zdroj: Mol Psychiatry

Predmety: Male, Aged, 80 and over, 540 Chemistry and allied sciences, Adenosine, Electron Transport Complex I, Amyloid beta-Peptides, 610 Medizin, Methyltransferases, Methylation, Article, Mitochondria, Mitochondrial Proteins, Alzheimer Disease, 540 Chemie, 610 Medical sciences, Humans, Aged, 80 and over [MeSH], Aged [MeSH], Adenosine/metabolism [MeSH], 38/90, 692/699/476, 96/109, Electron Transport Complex I/genetics [MeSH], Male [MeSH], Mitochondrial Proteins/genetics [MeSH], 82/58, Alzheimer Disease/metabolism [MeSH], RNA, Messenger/metabolism [MeSH], 13/89, Female [MeSH], Mitochondrial Proteins/metabolism [MeSH], 82/80, Methylation [MeSH], Mitochondria/metabolism [MeSH], Amyloid beta-Peptides/metabolism [MeSH], Humans [MeSH], Electron Transport Complex I/metabolism [MeSH], 631/45, 38/71, Methyltransferases/genetics [MeSH], Alzheimer Disease/genetics [MeSH], Methyltransferases/metabolism [MeSH], article, Female, RNA, Messenger, Aged

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38287100
https://repository.publisso.de/resource/frl:6504569

Fine-tuning of gene expression through the Mettl3-Mettl14-Dnmt1 axis controls ESC differentiation.

Autori: Quarto, Giuseppe Li Greci, Andrea Bizet, Martin a ďalší

Prispievatelia: Quarto, Giuseppe Li Greci, Andrea Bizet, Martin a ďalší

Zdroj: Cell, 188 (4), 998 - 1018 (2025-02-20)

Predmety: DNA methylation, DNMT1, ESCs, METTL14, METTL3, differentiation, epigenetics, epitranscriptomics, gene expression, m(6)A, Methyltransferases, Mettl3 protein, mouse, Adenosine, N-methyladenosine, DNA (Cytosine-5-)-Methyltransferase 1, Mettl14 protein, mouse, Dnmt1 protein, mouse, Chromatin, Animals, Mice, DNA Methylation, Embryonic Stem Cells/metabolism, Epigenesis, Genetic, Embryoid Bodies/metabolism, Embryoid Bodies/cytology, Chromatin/metabolism, Humans, Mouse Embryonic Stem Cells/metabolism, Gene Expression Regulation, Methyltransferases/metabolism, Methyltransferases/genetics, Cell Differentiation, Adenosine/analogs & derivatives, Adenosine/metabolism, DNA (Cytosine-5-)-Methyltransferase 1/metabolism, DNA (Cytosine-5-)-Methyltransferase 1/genetics, m6A, Embryoid Bodies, Embryonic Stem Cells, Mouse Embryonic Stem Cells, Biochemistry, Genetics and Molecular Biology (all), Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: urn:issn:0092-8674; urn:issn:1097-4172

Prístupová URL adresa: https://orbi.uliege.be/handle/2268/330765

Dnmt3a1 regulates hippocampus-dependent memory via the downstream target Nrp1

Autori: Kupke, Janina Klimmt, Julien Mudlaff, Franziska a ďalší

Zdroj: Neuropsychopharmacology

Predmety: EXPRESSION, Male, 0301 basic medicine, Memory, Long-Term, DE-NOVO, Hippocampus, Article, DNA Methyltransferase 3A, Mice, 03 medical and health sciences, Memory, Animals, NONCODING RNA, Pharmacology & Pharmacy, TRANSCRIPTION, DNA (Cytosine-5-)-Methyltransferases, DNA METHYLATION, 11 Medical and Health Sciences, Memory Consolidation, Psychiatry, 0303 health sciences, Science & Technology, Neurosciences, METHYLTRANSFERASES, Fear, Neuropilin-1, 17 Psychology and Cognitive Sciences, Mice, Inbred C57BL, MAINTENANCE, EPIGENETIC MECHANISMS, 5202 Biological psychology, 3209 Neurosciences, Neurosciences & Neurology, Mice, Inbred C57BL [MeSH], 631/378/1595/2167, Neuropilin-1/metabolism [MeSH], Neuropilin-1/genetics [MeSH], 38/91, Animals [MeSH], Memory/physiology [MeSH], 64/60, 631/378/2584, DNA Methyltransferase 3A [MeSH], DNA (Cytosine-5-)-Methyltransferases/genetics [MeSH], Mice [MeSH], Memory, Long-Term/physiology [MeSH], Male [MeSH], Memory Consolidation/physiology [MeSH], 631/378/2591, 38, Fear/physiology [MeSH], DNA (Cytosine-5-)-Methyltransferases/metabolism [MeSH], Hippocampus/metabolism [MeSH], article, Life Sciences & Biomedicine

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38499720
https://research.vu.nl/en/publications/87732013-7f7d-4242-a245-e398ce20ca8a
https://doi.org/10.1038/s41386-024-01843-0
https://hdl.handle.net/1871.1/87732013-7f7d-4242-a245-e398ce20ca8a
https://lirias.kuleuven.be/handle/20.500.12942/744839
https://doi.org/10.1038/s41386-024-01843-0
https://repository.publisso.de/resource/frl:6504861

EBV-positive DLBCL frequently harbors somatic mutations associated with clonal hematopoiesis of indeterminate potential

Autori: Yong Li Zijun Y. Xu-Monette Jeremy Abramson a ďalší

Prispievatelia: Yong Li Zijun Y. Xu-Monette Jeremy Abramson a ďalší

Zdroj: Blood Adv
Li, Y, Xu-Monette, Z Y, Abramson, J, Sohani, A, Bhagat, G, Tzankov, A, Visco, C, Zhang, S, Dybkaer, K, Pan, Z, Xu, M, Tam, W, Zu, Y, Hsi, E D, Hagemeister, F B, Go, H, van Krieken, J H, Winter, J N, Ponzoni, M, Ferreri, A J M, Møller, M B, Piris, M A, Wang, Y, Zhang, M & Young, K H 2023, 'EBV-positive DLBCL frequently harbors somatic mutations associated with clonal hematopoiesis of indeterminate potential', Blood advances, vol. 7, no. 7, pp. 1308–1311. https://doi.org/10.1182/bloodadvances.2022008550

Predmety: Herpesvirus 4, Human, 03 medical and health sciences, Human/genetics, 0302 clinical medicine, Mutation, Herpesvirus 4, Research Letter, DNA (Cytosine-5-)-Methyltransferases/genetics, DNA (Cytosine-5-)-Methyltransferases, Clonal Hematopoiesis, EBV DNA, DNA Methyltransferase 3A

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/36399513
https://vbn.aau.dk/da/publications/ffcf095f-61f0-42b8-a645-13983438dbee
https://vbn.aau.dk/ws/files/533911513/Li_et_al_2023_EBV_positive_DLBCL_frequently_harbors_somatic_mutations_associated_with_clonal_hematopoiesis_of_indeterminate_potential.pdf
https://doi.org/10.1182/bloodadvances.2022008550
https://ashpublications.org/bloodadvances/article/7/7/1308/493250/EBV-positive-DLBCL-frequently-harbors-somatic
https://hdl.handle.net/20.500.11768/153256
https://doi.org/10.1182/bloodadvances.2022008550

Cytosolic N6AMT1-dependent translation supports mitochondrial RNA processing

Autori: Mads M. Foged Emeline Recazens Sylvain Chollet a ďalší

Zdroj: Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences, vol. 121, no. 47
Proceedings of the National Academy of Sciences of the United States of America, vol. 121, no. 47, pp. e2414187121

Predmety: Cytosol/metabolism, Mitochondria/metabolism, Mitochondria/genetics, Humans, Protein Biosynthesis, RNA, Mitochondrial/metabolism, RNA, Mitochondrial/genetics, Methyltransferases/metabolism, Methyltransferases/genetics, Mitochondrial Proteins/metabolism, Mitochondrial Proteins/genetics, Ribonuclease P/metabolism, Ribonuclease P/genetics, RNA Processing, Post-Transcriptional, Animals, Organelle Biogenesis, Mice, Oxidative Phosphorylation, OXPHOS, RNA processing, mitochondria, mitochondrial RNA granules, translation, RNA, Mitochondrial, Methyltransferases, Biological Sciences, Ribonuclease P, Mitochondria, Mitochondrial Proteins, Cytosol

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39503847
https://serval.unil.ch/notice/serval:BIB_DD4E564FB207
https://serval.unil.ch/resource/serval:BIB_DD4E564FB207.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DD4E564FB2070
https://serval.unil.ch/notice/serval:BIB_538A9FE626ED
https://serval.unil.ch/resource/serval:BIB_538A9FE626ED.P002/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_538A9FE626ED2

Global loss of cellular m6A RNA methylation following infection with different SARS-CoV-2 variants

Autori: Vaid, Roshan Mendez, Akram Thombare, Ketan a ďalší

Prispievatelia: Vaid, Roshan Mendez, Akram Thombare, Ketan a ďalší

Zdroj: Genome Res

Predmety: 0301 basic medicine, Methyltransferases / genetics, SARS-CoV-2, Research, COVID-19* / genetics, COVID-19, Methyltransferases, Methylation, 3. Good health, [SDV] Life Sciences [q-bio], 03 medical and health sciences, Viral / genetics, SARS-CoV-2* / genetics, Humans, RNA, RNA, Viral

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/36859333
https://pasteur.hal.science/pasteur-04133358v1
https://pasteur.hal.science/pasteur-04133358v1/document
https://doi.org/10.1101/gr.276407.121

Characterization of a methyltransferase for iterative N-methylation at the leucinostatin termini in Purpureocillium lilacinum

Autori: Li, Zixin Jiao, Yang Ling, Jian a ďalší

Zdroj: Commun Biol
Communications Biology, Vol 7, Iss 1, Pp 1-10 (2024)

Predmety: Fungal Proteins/chemistry, 0301 basic medicine, QH301-705.5, Phytophthora infestans, leucinostatin A, Methyltransferases/metabolism, Molecular Dynamics Simulation, Methylation, Article, Methyltransferases/genetics, Fungal Proteins, 03 medical and health sciences, Methyltransferases/chemistry, Hypocreales/enzymology, Agriculture & agronomie, Catalytic Domain, Hypocreales/genetics, Amino Acid Sequence, Biology (General), Fungal Proteins/metabolism, Cryptococcus neoformans/genetics, 0303 health sciences, Phytophthora infestans/genetics, Methyltransferases, Phytophthora infestans/enzymology, Agriculture & agronomy, Life sciences, Cryptococcus neoformans/enzymology, Fungal Proteins/genetics, Hypocreales, Sciences du vivant, Cryptococcus neoformans, Mutagenesis, Site-Directed, Antimicrobial Cationic Peptides

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38909167
https://doaj.org/article/745efd75d58a4f6e905eb9abc8179564

DNMT3A mutations define a unique biological and prognostic subgroup associated with cytotoxic T cells in PTCL-NOS

Autori: Tyler A. Herek Alyssa Bouska Waseem Lone a ďalší

Zdroj: Herek, T A, Bouska, A, Lone, W, Sharma, S, Amador, C, Heavican, T B, Li, Y, Wei, Q, Jochum, D, Greiner, T C, Smith, L, Pileri, S, Feldman, A L, Rosenwald, A, Ott, G, Lim, S T, Ong, C K, Song, J, Jaffe, E S, Wang, G G, Staudt, L, Rimsza, L M, Vose, J, d'Amore, F, Weisenburger, D D, Chan, W C & Iqbal, J 2022, 'DNMT3A mutations define a unique biological and prognostic subgroup associated with cytotoxic T cells in PTCL-NOS', Blood, vol. 140, no. 11, pp. 1278-1290. https://doi.org/10.1182/blood.2021015019

Predmety: Interferon-gamma/genetics, 0301 basic medicine, Receptors, Antigen, T-Cell/genetics, Lymphoma, T-Cell, Peripheral/pathology, Receptors, Antigen, T-Cell, Lymphoma, T-Cell, Peripheral, Methyltransferases, Prognosis, Methyltransferases/genetics, Interferon-gamma, Mice, 03 medical and health sciences, 0302 clinical medicine, Mutation, Animals

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/35639959
https://pure.au.dk/portal/en/publications/b5b4f247-e785-43df-8ee8-cf2e4386649c
https://doi.org/10.1182/blood.2021015019
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479030/?report=printable

OCT4 activates aSuv39h1-repressive antisense lncRNA to couple histone H3 Lysine 9 methylation to pluripotency

Autori: Bernard, Laure Dubois, Agnès Heurtier, Victor a ďalší

Prispievatelia: Bernard, Laure Dubois, Agnès Heurtier, Victor a ďalší

Zdroj: Nucleic Acids Res
Bernard, L D, Dubois, A, Heurtier, V, Fischer, V, Gonzalez, I, Chervova, A, Tachtsidi, A, Gil, N, Owens, N, Bates, L E, Vandormael-Pournin, S, Silva, J C R, Ulitsky, I, Cohen-Tannoudji, M & Navarro, P 2022, ' OCT4 activates a Suv39h1-repressive antisense lncRNA to couple histone H3 Lysine 9 methylation to pluripotency ', Nucleic Acids Research, vol. 50, no. 13, pp. 7367-7379 . https://doi.org/10.1093/nar/gkac550

Predmety: 0301 basic medicine, Histones/genetics, Repressor Proteins/genetics, Gene regulation, Chromatin and Epigenetics, Methyltransferases, Methylation, Chromatin, Methyltransferases/genetics, Histone Code, Histones, Repressor Proteins, Mice, 03 medical and health sciences, [SDV.BDD] Life Sciences [q-bio]/Development Biology, Animals, RNA, Long Noncoding, RNA, Long Noncoding/genetics, Octamer Transcription Factor-3, Octamer Transcription Factor-3/metabolism

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/35762231
https://pasteur.hal.science/pasteur-03719071v1
https://doi.org/10.1093/nar/gkac550
https://pasteur.hal.science/pasteur-03719071v1/document
https://hdl.handle.net/20.500.11820/19e92fef-5d5c-4b43-b73a-964bae704806
https://www.pure.ed.ac.uk/ws/files/356187117/gkac550.pdf

The epigenetic downregulation of LncGHRLOS mediated by RNA m6A methylase ZCCHC4 promotes colorectal cancer tumorigenesis

Autori: Chen, Ke Zhang, Jingcheng Meng, Lei a ďalší

Zdroj: J Exp Clin Cancer Res
Journal of Experimental & Clinical Cancer Research, Vol 43, Iss 1, Pp 1-16 (2024)

Predmety: 0301 basic medicine, Carcinogenesis, Down-Regulation, Epigenesis, Genetic, LncRNAGHRLOS, Minor Histocompatibility Antigens, 03 medical and health sciences, ZCCHC4, Cell Line, Tumor, Animals, Humans, RC254-282, Histone Demethylases, tRNA Methyltransferases, 0303 health sciences, Research, Colorectal cancer, N6-methyladenosine, KDM5D, Adenine, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Methyltransferases, ddc, 3. Good health, Cell Transformation, Neoplastic, RNA, RNA, Long Noncoding, Adenine/analogs, Cell Line, Tumor [MeSH], Down-Regulation [MeSH], Humans [MeSH], Minor Histocompatibility Antigens [MeSH], Cell Transformation, Neoplastic/genetics [MeSH], RNA, Long Noncoding/genetics [MeSH], Animals [MeSH], tRNA Methyltransferases/genetics [MeSH], Epigenesis, Genetic [MeSH], Histone Demethylases/genetics [MeSH], RNA [MeSH], Colorectal Neoplasms/pathology [MeSH], Methyltransferases/metabolism [MeSH], Carcinogenesis/genetics [MeSH], tRNA Methyltransferases/metabolism [MeSH], Colorectal Neoplasms

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38326863
https://doaj.org/article/7c087dc2aa22461c96bb15d2b199f480
https://repository.publisso.de/resource/frl:6495651
https://mediatum.ub.tum.de/1770428

Cytosolic N6AMT1-dependent translation supports mitochondrial RNA processing.

Autori: Foged, M.M. Recazens, E. Chollet, S. a ďalší

Zdroj: Proceedings of the National Academy of Sciences of the United States of America, vol. 121, no. 47, pp. e2414187121

Predmety: Cytosol/metabolism, Mitochondria/metabolism, Mitochondria/genetics, Humans, Protein Biosynthesis, RNA, Mitochondrial/metabolism, Mitochondrial/genetics, Methyltransferases/metabolism, Methyltransferases/genetics, Mitochondrial Proteins/metabolism, Mitochondrial Proteins/genetics, Ribonuclease P/metabolism, Ribonuclease P/genetics, RNA Processing, Post-Transcriptional, Animals, Organelle Biogenesis, Mice, Oxidative Phosphorylation, OXPHOS, mitochondria, mitochondrial RNA granules, translation

Popis súboru: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/39503847; info:eu-repo/semantics/altIdentifier/eissn/1091-6490; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_538A9FE626ED2; https://serval.unil.ch/notice/serval:BIB_538A9FE626ED; https://serval.unil.ch/resource/serval:BIB_538A9FE626ED.P002/REF.pdf

Dostupnosť: https://serval.unil.ch/notice/serval:BIB_538A9FE626ED
https://doi.org/10.1073/pnas.2414187121
https://serval.unil.ch/resource/serval:BIB_538A9FE626ED.P002/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_538A9FE626ED2

Genetic alterations in Thai adult patients with acute myeloid leukemia and myelodysplastic syndrome—excess blasts detected by next-generation sequencing technique

Autori: Owattanapanich, Weerapat Herzig, Julia Jahn, Nikolaus a ďalší

Zdroj: Ann Hematol

Predmety: Akute myeloische Leukämie, Adult, Male, DNA Methyltransferase 3A, Leukemia, Myeloid, Acute, Genetics, 03 medical and health sciences, 0302 clinical medicine, Genetic, Humans, Genanalyse, DNA (Cytosine-5-)-Methyltransferases, Prospective Studies, Female [MeSH], Mutation [MeSH], Adult [MeSH], Humans [MeSH], Prospective Studies [MeSH], Myelodysplastic Syndromes/therapy [MeSH], Middle Aged [MeSH], Myelodysplastic Syndromes/genetics [MeSH], Thailand, Thailand/epidemiology [MeSH], DNA (Cytosine-5-)-Methyltransferases/genetics [MeSH], Original Article, Acute myeloid leukemia, Male [MeSH], Leukemia, Myeloid, Acute/epidemiology [MeSH], Leukemia, Myeloid, Acute/genetics [MeSH], Myelodysplastic Syndromes/epidemiology [MeSH], fms-Like Tyrosine Kinase 3/genetics [MeSH], Next-generation sequencing, Leukemia, Myeloid, Acute/therapy [MeSH], Molecular, High-Throughput Nucleotide Sequencing [MeSH], 10. No inequality, High-Throughput Nucleotide Sequencing, Middle Aged, 3. Good health, fms-Like Tyrosine Kinase 3, Myelodysplastic Syndromes, Mutation, Female, High-throughput nucleotide sequencing

Popis súboru: application/pdf

Prístupová URL adresa: https://link.springer.com/content/pdf/10.1007/s00277-021-04513-z.pdf
https://pubmed.ncbi.nlm.nih.gov/33839881
https://link.springer.com/content/pdf/10.1007/s00277-021-04513-z.pdf
https://pubmed.ncbi.nlm.nih.gov/33839881/
https://europepmc.org/article/MED/33839881
https://link.springer.com/article/10.1007/s00277-021-04513-z
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8285357
https://repository.publisso.de/resource/frl:6447821

Relationship Between Thiopurine S-Methyltransferase Genotype/Phenotype and 6-Thioguanine Nucleotide Levels in 316 Patients With Inflammatory Bowel Disease on 6-Thioguanine

Autori: Bayoumy, Ahmed B. Mulder, Chris J. J. Loganayagam, Aathavan a ďalší

Zdroj: Ther Drug Monit
Bayoumy, A B, Mulder, C J J, Loganayagam, A, Sanderson, J D, Anderson, S, Boekema, P J, Derijks, L J J & Ansari, A R 2021, 'Relationship Between Thiopurine S-Methyltransferase Genotype/Phenotype and 6-Thioguanine Nucleotide Levels in 316 Patients With Inflammatory Bowel Disease on 6-Thioguanine', Therapeutic Drug Monitoring, vol. 43, no. 5, pp. 617-623. https://doi.org/10.1097/FTD.0000000000000869

Predmety: Adult, Male, Genotype, Mercaptopurine, Methyltransferases, Immunosuppressive Agents/pharmacokinetics, Middle Aged, Thionucleotides, Inflammatory Bowel Diseases, Guanine Nucleotides, 3. Good health, Methyltransferases/genetics, 03 medical and health sciences, Phenotype, 0302 clinical medicine, Inflammatory Bowel Diseases/drug therapy, Azathioprine, Humans, Thioguanine/pharmacokinetics, Original Article, Female, Thioguanine, Immunosuppressive Agents, Retrospective Studies

Prístupová URL adresa: https://journals.lww.com/drug-monitoring/Abstract/9000/The_Relationship_Between_Thiopurine.98660.aspx
https://pubmed.ncbi.nlm.nih.gov/34521801
https://research.vu.nl/en/publications/13f78fb2-c79e-4995-be2c-4ac6b2a3f811
https://doi.org/10.1097/FTD.0000000000000869
https://hdl.handle.net/1871.1/13f78fb2-c79e-4995-be2c-4ac6b2a3f811
https://www.narcis.nl/publication/RecordID/oai%3Apure.atira.dk%3Apublications%2F8ab981e9-5851-49a7-8e73-096fa2e3e739
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8437045/
https://research.vumc.nl/en/publications/8ab981e9-5851-49a7-8e73-096fa2e3e739

tRNA 2′-O-methylation by a duo of TRM7/FTSJ1 proteins modulates small RNA silencing in Drosophila

Autori: Angelova, Margarita Dimitrova, Dilyana Da silva, Bruno a ďalší

Prispievatelia: Angelova, Margarita Dimitrova, Dilyana Da silva, Bruno a ďalší

Zdroj: Nucleic Acids Res
Nucleic acids research, vol. 48, no. 4, pp. 2050-2072

Predmety: 0301 basic medicine, 2. Zero hunger, tRNA Methyltransferases, Saccharomyces cerevisiae Proteins, Nucleic Acid Enzymes, Animals, Drosophila melanogaster/genetics, Gene Expression Regulation/genetics, Gene Silencing, Humans, Methylation, Methyltransferases/genetics, Nuclear Proteins/genetics, RNA Interference, RNA, Transfer/genetics, Saccharomyces cerevisiae/genetics, Saccharomyces cerevisiae Proteins/genetics, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, tRNA Methyltransferases/genetics, Nuclear Proteins, Methyltransferases, Saccharomyces cerevisiae, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, 3. Good health, 03 medical and health sciences, Drosophila melanogaster, Gene Expression Regulation, RNA, Transfer, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]

Popis súboru: application/pdf

Prístupová URL adresa: https://academic.oup.com/nar/article-pdf/48/4/2050/32615193/gkaa002.pdf
https://pubmed.ncbi.nlm.nih.gov/31943105
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038984
https://hal.univ-lorraine.fr/hal-02445153
https://serval.unil.ch/notice/serval:BIB_54F1E8540412
https://serval.unil.ch/resource/serval:BIB_54F1E8540412.P001/REF.pdf
https://pubmed.ncbi.nlm.nih.gov/31943105/
https://www.ncbi.nlm.nih.gov/pubmed/31943105
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_54F1E85404120
https://serval.unil.ch/resource/serval:BIB_54F1E8540412.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_54F1E8540412
https://hal.univ-lorraine.fr/hal-02445153v1
https://doi.org/10.1093/nar/gkaa002

New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene

Autori: Raquel Gouveia Silva Juliette Dupont Eduardo Silva a ďalší

Zdroj: Journal of American Association for Pediatric Ophthalmology and Strabismus. 26:268-270

Predmety: Protein-Arginine N-Methyltransferases, HDE OFT, F-Box Proteins, F-Box Proteins* / genetics, Eye Abnormalities, 3. Good health, Phenotype, Optic Nerve Hypoplasia, Intellectual Disability, Intellectual Disability* / genetics, Humans, Muscle Hypotonia, Protein-Arginine N-Methyltransferases / genetics

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/35940561
http://hdl.handle.net/10400.17/4479

Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.

Autori: Mattioli, F. Worpenberg, L. Li, C.T. a ďalší

Zdroj: Genetics in medicine, vol. 25, no. 9, pp. 100900

Predmety: Humans, Intellectual Disability/genetics, Homozygote, Neurodevelopmental Disorders/genetics, Methyltransferases/genetics, Methyltransferases/metabolism, RNA, Pedigree, tRNA Methyltransferases/genetics, tRNA Methyltransferases/metabolism, Autosomal recessive, Consanguinity, Neurodevelopmental disorder, RNA methyltransferase, m(5)C

Popis súboru: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/37226891; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D38F5D2EC77B1; https://serval.unil.ch/notice/serval:BIB_D38F5D2EC77B; https://serval.unil.ch/resource/serval:BIB_D38F5D2EC77B.P001/REF.pdf

Dostupnosť: https://serval.unil.ch/notice/serval:BIB_D38F5D2EC77B
https://doi.org/10.1016/j.gim.2023.100900
https://serval.unil.ch/resource/serval:BIB_D38F5D2EC77B.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D38F5D2EC77B1

Prevalence and dynamics of clonal hematopoiesis caused by leukemia-associated mutations in elderly individuals without hematologic disorders

Autori: Danica Midic Jenny Rinke Florian Perner a ďalší

Zdroj: Leukemia

Predmety: Aged, 80 and over, Male, 0301 basic medicine, 0303 health sciences, Leukemia, Age Factors, Article, Clone Cells, DNA Methyltransferase 3A, Hematopoiesis, 3. Good health, Mice, 03 medical and health sciences, Female [MeSH], Age Factors [MeSH], Mutation [MeSH], Aged, 80 and over [MeSH], Leukaemia, Aged [MeSH], Humans [MeSH], Leukemia/genetics [MeSH], RNA, Messenger/analysis [MeSH], Animals [MeSH], DNA (Cytosine-5-)-Methyltransferases/genetics [MeSH], Hematopoiesis/genetics [MeSH], Mice [MeSH], Male [MeSH], Clone Cells [MeSH], Cancer genetics, Prevalence [MeSH], Mutation, Prevalence, Animals, Humans, Female, DNA (Cytosine-5-)-Methyltransferases, RNA, Messenger, Aged

Prístupová URL adresa: https://www.nature.com/articles/s41375-020-0869-y.pdf
https://pubmed.ncbi.nlm.nih.gov/32457355
http://www.ncbi.nlm.nih.gov/pubmed/32457355
https://pubmed.ncbi.nlm.nih.gov/32457355/?from_term=Prevalence+and+dynamics+of+clonal+hematopoiesis+caused&from_pos=2
https://www.scilit.net/article/5422ba470a1d69ab1c633f0dfe4c0279
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7387320
https://www.nature.com/articles/s41375-020-0869-y
https://www.nature.com/articles/s41375-020-0869-y.pdf
https://repository.publisso.de/resource/frl:6471050

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Autori: Sheppard, Sarah E. Bryant, Laura Wickramasekara, Rochelle N. a ďalší

Prispievatelia: Sheppard, Sarah E. Bryant, Laura Wickramasekara, Rochelle N. a ďalší

Zdroj: Sci Adv
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Science Advances, 9, 10, pp. eade1463
Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; ... (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. American Association for the Advancement of Science 10.1126/sciadv.ade1463 <http://dx.doi.org/10.1126/sciadv.ade1463>
Sheppard, S E, Bryant, L, Wickramasekara, R N, Vaccaro, C, Robertson, B, Hallgren, J, Hulen, J, Watson, C J, Faundes, V, Duffourd, Y, Lee, P, Simon, M C, de la Cruz, X, Padilla, N, Flores-Mendez, M, Akizu, N, Smiler, J, Pellegrino Da Silva, R, Li, D, March, M, Diaz-Rosado, A, Peixoto de Barcelos, I, Choa, Z X, Dubourg, C, Journel, H, Demurger, F, Mulhern, M, Akman, C, Lippa, N, Andrews, M, Baldridge, D, Constantino, J, van Haeringen, A, Snoeck-Streef, I, Chow, P, Hing, A, Graham, J M, Au, M, Faivre, L, Mao, R, Palumbos, J, Viskochil, D, Gahl, W, Tifft, C, Macnamara, E, Hauser, N, Miller, R, Maffeo, J, Afenjar, A, Doummar, D, Keren, B, Arn, P, Macklin-Mantia, S, Meerschaut, I, Callewaert, B, Reis, A, Zweier, C, Brewer, C, Saggar, A, Smeland, M F, Kumar, A, Elmslie, F, Deshpande, C, Nizon, M, Cogne, B, van Ierland, Y, Wilke, M, van Slegtenhorst, M, Koudijs, S, Dredge, D, Pier, D, Wortmann, S, Kamsteeg, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, Weber, S, Pérez de la Fuente, R, Sánchez Del Pozo, J, Lezana Rosales, J M, Joset, P, Steindl, K, Rauch, A, Mei, D, Mari, F, Guerrini, R, Lespinasse, J, Tran Mau-Them, F, Philippe, C, Dauriat, B, Raymond, L, Moutton, S, Cueto-González, A M, Tan, T Y, Mignot, C, Grotto, S, Renaldo, F, Drivas, T G, Hennessy, L, Raper, A, Parenti, I, Kaiser, F J, Kuechler, A, Busk, Ø L, Islam, L, Siedlik, J A, Henderson, L B, Juusola, J, Person, R, Schnur, R E, Vitobello, A, Banka, S, Bhoj, E J & Stessman, H A F 2023, 'Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice', Science Advances, vol. 9, no. 10, eade1463. https://doi.org/10.1126/sciadv.ade1463
SCIENCE ADVANCES

Predmety: 0301 basic medicine, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Allelic Imbalance::Loss of Heterozygosity::Haploinsufficiency, Radboudumc 6: Metabolic Disorders Paediatrics, Medizin, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, [SDV.GEN] Life Sciences [q-bio]/Genetics, Haploinsufficiency, Neurodevelopmental Disorders/genetics, CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Transferases::One-Carbon Group Transferases::Methyltransferases, Methyltransferases/genetics, Mice, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Medicine and Health Sciences, TOOL, Mice, Knockout, 0303 health sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, HISTONE, 3. Good health, GENOME, Fenotip, Phenotype, Histone Methyltransferases, Megalencephaly, EXPRESSION, Metiltransferases, mice, Other subheadings::Other subheadings::Other subheadings::/genetics, Knockout, Radboud University Medical Center, 610 Medicine & health, 03 medical and health sciences, Animals, Humans, AUTISM, General, IDENTIFICATION, LANDSCAPE, MUTATIONS, ICTS (Institute of Clinical and Translational Sciences), Biology and Life Sciences, Methyltransferases, GENE, Sistema nerviós - Malalties - Aspectes genètics, haploinsufficiency, Neurodevelopmental Disorders, COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::transferasas::transferasas de grupos de un solo carbono::metiltransferasas, Biomedicine and Life Sciences, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::desequilibrio alélico::pérdida de heterocigosidad::haploinsuficiencia, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/36897941
https://hdl.handle.net/11351/9232
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/290785
https://research.manchester.ac.uk/en/publications/064bf450-6a7b-4d0d-8439-cb8af9828bf7
https://doi.org/10.1126/sciadv.ade1463
https://dspace.library.uu.nl/handle/1874/458814
https://repository.ubn.ru.nl//bitstream/handle/2066/290785/290785.pdf
https://repository.ubn.ru.nl/handle/2066/290785
https://hal.science/hal-04122721v1/document
https://hal.science/hal-04122721v1
https://doi.org/10.1126/sciadv.ade1463
https://boris.unibe.ch/179893/
https://research.manchester.ac.uk/en/publications/064bf450-6a7b-4d0d-8439-cb8af9828bf7
https://doi.org/10.1126/sciadv.ade1463
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10005179/
https://biblio.vub.ac.be/vubir/mechanism-of-kmt5b-haploinsufficiency-in-neurodevelopment-in-humans-and-mice(db00e3f6-bce6-4545-9beb-19850eb66732).html
https://biblio.ugent.be/publication/01JQ9CA4G9Q21SF8963QPEEFSX
http://hdl.handle.net/1854/LU-01JQ9CA4G9Q21SF8963QPEEFSX
http://doi.org/10.1126/sciadv.ade1463
https://biblio.ugent.be/publication/01JQ9CA4G9Q21SF8963QPEEFSX/file/01JQBXNA85BMDXTD5EN9NXWJS5
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85150009253
https://www.ncbi.nlm.nih.gov/pubmed/36897941
https://doi.org/10.1126/sciadv.ade1463